Some disturbances of erythrocyte metabolism in galactosaemia.

نویسندگان

  • V SCHWARZ
  • L GOLBERG
  • G M KOMROWER
  • A HOLZEL
چکیده

Galactosaemia is an inborn error of metabolism involving a specific inability to metabolize galactose normally. The affected infants show failure to thrive, enlargement of the liver and spleen, vomiting, jaundice, proteinuria, aminoaciduria, a high blood-galactose level and consequent excretion of large quantities of this sugar in the urine. These disturbances may be avoided or overcome by the early withdrawal of all sources of dietary galactose. Thereafter, the administration of galactose in any form causes this sugar to reappear in blood and urine in significant amounts. If the condition should remain untreated for any length of time death may ensue, whilst the survivors may develop cataract, cirrhosis of the liver and mental retardation. Published reports throw no light on the exact nature of the basic biochemical lesion which is responsible for the syndrome, nor on the possible connexion between the accumulation of galactose in the body and hepatic, renal, cerebral and other disturbances. In an attempt to study these aspects we have sought to use those cells of the patient which are most readily available, the erythrocytes. Since the mammalian erythrocyte is known to metabolize galactose (Katayama, 1926; Feigelson & Conte, 1954; Nossal, 1948) there was ground for the hope that the presence of a biochemical defect in hepatic parenchymal cells might be shared, at any rate to some degree, by the erythrocytes. We were thus led to compare the metabolism of galactosaemic red cells with that of normal cells under the same conditions.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Grape Seed Proanthocyanidin Extract Improved some of Biochemical Parameters and Antioxidant Disturbances of Red Blood Cells in Diabetic Rats

Grape seed proanthocyanidin extract (GSPE) has a broad spectrum of biologic properties against oxidative stress. This study aimed to investigate the effects of GSPE on biochemical factors and antioxidant enzymes of erythrocyte in diabetic rats. Diabetes was induced through single injection of streptozotocin (50 mg.kg-1, i.p). Forty Male Sprague-Dawley rats were divided into four Groups: Group 1...

متن کامل

Grape Seed Proanthocyanidin Extract Improved some of Biochemical Parameters and Antioxidant Disturbances of Red Blood Cells in Diabetic Rats

Grape seed proanthocyanidin extract (GSPE) has a broad spectrum of biologic properties against oxidative stress. This study aimed to investigate the effects of GSPE on biochemical factors and antioxidant enzymes of erythrocyte in diabetic rats. Diabetes was induced through single injection of streptozotocin (50 mg.kg-1, i.p). Forty Male Sprague-Dawley rats were divided into four Groups: Group 1...

متن کامل

The value of galactose phosphate determinations in the treatment of galactosaemia.

Hereditary galactosaemia is now known to be due to the deficiency of a single enzyme, galactose-lphosphate uridyl transferase* (Kalckar, Anderson and Isselbacher, 1956). This enzyme, the second in the chain of three enzymes concerned with the metabolism of galactose, catalyses the conversion of gal-I-P to G-1-P, as shown in equation (2): gal + ATP gal-I-P + ADP (1) gal-i-P + UDPG = G-1-P + UDPg...

متن کامل

Ophthalmic findings in classical galactosaemia--prospective study.

Thirty three children with classical galactosaemia diagnosed through newborn screening are considered. It is concluded that cataract formation has a direct relationship with poor dietary control. Erythrocyte galactose-1-phosphate (Gal-1-P) levels do not correspond to cataract formation unless many times higher than normal. The value of crystalline lens biomicroscopy is confirmed as a useful met...

متن کامل

Long-term follow-up of galactosaemia.

Galactosaemia is an inborn error of galactose metabolism in which the affected subject is unable to convert galactose to glucose due to the absence of activity of the enzyme galactose-l-phosphate (gal-l-p) uridyl transferase. This enzyme facilitates the conversion of gal-l-p to glucose-l-phosphate (glu-l-p). The untreated infant fails to thrive; jaundice, hepatomegaly sometimes with splenomegal...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • The Biochemical journal

دوره 62 1  شماره 

صفحات  -

تاریخ انتشار 1956